{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:33:08Z","timestamp":1778599988536,"version":"3.51.4"},"reference-count":9,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Loeys-Dietz syndrome is a syndrome caused by heterozygous mutations in the genes encoding type 1 or 2 transforming growth factor-\u03b2 receptor (TGF-\u03b2-R1\/2). The obstetrical manifestations are risk of rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period, and damage to the vagina, perineum and the colon. We describe, for the first time, a new &lt;i&gt;TGF-&lt;\/i&gt;\u03b2&lt;i&gt;-R2&lt;\/i&gt; gene mutation in a family with several individuals who either had aortic rupture and dissection, sudden death or aortic root dilatation. The pregnancy was followed up and the baby was successfully delivered by a cesarean section at 34 weeks of gestation. The mother\u2019s recovery was uneventful and the baby was negative for the mutation on postnatal molecular testing. With appropriate supervision and early delivery by cesarean section, women with Loeys-Dietz syndrome can tolerate pregnancy and delivery without any adverse effect.<\/jats:p>","DOI":"10.1159\/000236357","type":"journal-article","created":{"date-parts":[[2009,10,13]],"date-time":"2009-10-13T05:54:47Z","timestamp":1255413287000},"page":"35-37","source":"Crossref","is-referenced-by-count":29,"title":["Loeys-Dietz Syndrome in Pregnancy: A Case Description and Report of a Novel Mutation"],"prefix":"10.1159","volume":"26","author":[{"given":"Guy","family":"Gutman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit N.","family":"Baris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raphael","family":"Hirsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dror","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph B.","family":"Lessing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Kuperminc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,10,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1511"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMoa055695"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M100754200"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1392"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM200003093421001"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jvs.2005.03.053"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159%2F000109218"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.athoracsur.2006.10.091"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1124287"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/236357","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/236357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T22:15:27Z","timestamp":1745446527000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000236357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2009,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000236357","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009]]}}}